E2E (p.Glu2Glu) variant of LRP5 (O75197)
E2E (p.Glu2Glu) in LRP5 (O75197) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 11-68312720-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 9.79
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available
- Literature evidence available